Objective: To determine the frequency of ABO blood group and Rhesus (Rh) D antigen in the females of

Background: Dystrophic Epidermolysis bullosa (DEB) is a rare, severe subtype of epidermolysis bullosa (EB), characterized by blisters and miliary rashes of the skin. Dystrophic EB (DEB) includes variants inherited both in an autosomal-dominant or autosomal-recessive manner. Recessive dystrophic EB (RDEB) is divided into many subtypes and prevails as a result of biallelic genetic mutations in COL7A1 gene encoding type VII collagen, a major stabilizing molecule of the dermo-epidermal junction. The blister formation is mainly due to the variable structural and functional impairment of anchoring fibrils in VII collagen (COLVII), responsible for the adhesion of the epidermis to the dermis. Method: Three Pakistani families (A, B and C) affected with congenital dystrophic epidermolysis bullosa were recruited in the present study. The whole-exome sequencing (WES) approach was utilized for the detection of the pathogenic sequence variants in probands. The segregation of these variants in other participants was confirmed by Sanger sequencing. Results: This study identified a novel missense variant c.7034G>A, p. Gly2345Asp in exon 91, a novel Frameshift mutation c.385del (p. His129MetfsTer18) in a homozygous form in exon no 3, and a previously known nonsense variation (c.1573 C>T; p. Arg525Ter) in exon 12 of COL7A1 gene in families A, B, and C, respectively, as causative mutations responsible for dystrophic epidermolysis bullosa in these families. Conclusion: Our study validates the involvement of the COL7A1 gene in the etiology of dystrophic epidermolysis bullosa. It further expands the COL7A1 gene mutation database and provides an additional scientific basis for diagnosis, genetic counseling, and prognosis purposes for EB patients.

Background: Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word “ichthys” meaning fish, this is because the ichthyosis patients have dry, thickened, and scaly skin. There is an excess accumulation of epidermal cells resulting in the appearance of continuous and widespread scales on the body. There are many varieties of ichthyosis with a broad spectrum of intensity, severity, and associated symptoms, most of them are extremely rare. Ichthyosis vulgaris is the most frequently occurring type of ichthyoses. Method: The present study consists of four Pakistani ichthyosis families (A, B, C, and D). Whole exome sequencing (WES) approach was used to identify the pathogenic sequence variants in probands. The segregation of these variants in other participants was confirmed by Sanger sequencing. Results: Total four variants including, two splice site (TGM1: c.2088 + 1G > A) and (SPINK5: c.882 + 1G > T), a missense (SULT2B1: c.419C > T; p. Ala140Val), and a nonsense (FLG: c.6109C > T; p. Arg2037Ter) variant were identified in families A, C, B, and D, respectively, as causative mutations responsible for ichthyosis in these families. Conclusion: Our study unravels the molecular etiology of the four Pakistani ichthyosis families and validates the involvement of TGM1, SULT2B1, SPINK5, and FLG, in the etiology of different forms of ichthyosis. In addition, this study also aims to give a detailed clinical report of the studied ichthyosis families.

Background and Objectives: Hypertensive disorder in pregnancy is the significant disease that badly affects the maternal and fetal prognosis and lead to higher mortality and morbidity in the prenatal period. Visfatin, potentially a new adipokine has emerged having high contribution in pathogenesis of pre-eclampsia. The objective of the study was to find the level of Visfatin in pregnancy induced hypertension and normal pregnant women.Methods: This study was carried out in tertiary care hospitals, Peshawar from March-October 2014. A total of 234 pregnant women (gestational age >20 weeks) were included in the study with distribution as Preeclampsia (PE=86), Eclampsia (E=74) and control (N=74). Blood was taken for measuring Visfatin level by Enzyme Linked Immunosorbent Assay (ELISA) technique. SPSS version 19 was used for statistical analysis. Student

OBJECTIVE: To find out the actual prevalence of parasitic infestations in a community village Budhni of Peshawar, Pakistan.METHODS: This cross-sectional study was carried out in village Budhni near Peshawar, Pakistan. A sample of 288 children, aged <5 years were randomly selected. Information was collected on the age, gender, feeding and hygiene habits of the mothers and children. Fresh stool sample were collected in sterile bottles for microscopic examination. Data was analyzed statistically using SPSS version 16.RESULTS: A total of 288 children were included in the study; out of which 175(61%) were males and 113(39%) females. The mean age was 33.8±16.1 months. An overall prevalence of parasitic infestations was 41% (n=117). The most common parasites observed were Giardia lamblia (n=56; 19.4%), Entamoeba histolytica (n=36; 12.5%) and Hymenolepis nana (n=18; 6.3%). Multiple infestations were seen in 19% children. Worm infestation was found more common up to the age of 36 months. Female children were more infected (n=43; 38%) as compared to male children (n=55; 31.4%). Worm infestation increased with the family size, low parental education, non-breast fed, use of drinking water from well and lack of toilet facility. Hand washing practice before feeding/weaning and use of soother by the child have also showed some increased frequency of worm infestation.CONCLUSION: Prevalence of parasitic infestation is quite high in children, aged <5 years in rural areas of Peshawar. Single as well multiple infestations were found. Lack of education, improper sanitation and drinking water facility play the major role in causing infection.KEY WORDS: Intestinal Diseases, Parasitic (MeSH); Worm infestation (Non-MeSH); Multiple infestations (Non-MeSH); Giardia lamblia (MeSH); Entamoeba histolytica (MeSH); Hymenolepis nana (MeSH); Ascaris lumbricoides (MeSH); Hymenolepiasis (MeSH); Parasites (MeSH); Rural Population (MeSH)

Objective: To evaluate changes in serum lipoproteins in primiparous women with eclampsia and compare it with pregnant women having normal blood pressure.Methods: This cross sectional study was conducted on 65 primiparous eclamptic patients and 21 normotensive pregnant women in the tertiary care hospitals of Peshawar. History of each woman was recorded on a questionnaire. Blood pressure was measured using standard methods. About 5 ml of venous blood was drawn for the analysis of lipoproteins. The data was analyzed using computer software package SPSS version 10. The P value <0.05 was considered statistically significant.Results: Mean age of hypertensive cases was 23.2